Hotspots of Mammalian Chromosome Evolution


The emergence of high‐quality mammalian whole genome sequence data has enabled for the first time a comprehensive investigation of the molecular mechanisms of mammalian chromosome evolution. New sequence data reveal an unexpected degree of chromosomal plasticity, both in the healthy human population and in cross‐species evolutionary comparisons. In the context of the evolutionary framework established by comparative cytogenetics, the new data reveal lineage‐specific chromosomal rearrangement pattern often linked to particular duplicated or repetitive sequences. Multispecies comparisons indicate evolutionary reuse of certain chromosomal breakpoints as well as some associations of breakpoints to cytogenetic chromosomal landmarks.

Keywords: genome plasticity; segmental duplications; karyotype evolution; chromosome rearrangement mechanisms; comparative genetics

Figure 1.

Chromosomal homologies to human chromosome 1 detected by reciprocal Zoo‐FISH and genome sequence alignments delineating a region of high‐evolutionary plasticity around band 1q22. The picture shows a GTG‐banded ideogram of human chromosome 1 on the left. The vertical bars to the right of the ideogram depict the extent of the chromosomal orthologies in 11 eutherian species. Zoo‐FISH data are given in saturated colours and genome sequence‐based orthologies are indicated by lighter coloured bars. Please note the clustering of breakpoints around chromosome band 1q22 (indicated by the green frame) as described in greater detail by Murphy et al. . The genome sequence alignment data are taken from the ENSEMBL genome browser (

Figure 2.

Mechanisms causing chromosomal rearrangements and examples of selection mechanisms directing chromosomal evolution in germline cells. The diagram indicates at which points of the simplified germline cell life cycle the mechanisms are likely to act. The boxes A, B, C and D indicate potential DNA damage causes and DNA repair mechanisms generating chromosomal rearrangements. The position of selection mechanisms is given by the lowercase letters: (a) cell cycle arrest caused by nondisjunction of rearranged chromosomes; rescue through neocentromere formation, cascading chromosome rearrangements through breakage‐fusion‐bridge cycles, (b) meiotic drive, induction of additional chromosomal imbalances by crossing‐over between rearrangement heterozygotes; meiotic arrest due to transcriptional silencing of unpaired chromatin, (c) selection against genetic imbalances through competition among gametes in folliculogenesis and sperm motility, (d) selection against genetic imbalances ; selection against disturbances of the 3D nuclear architecture and (e) selection due to infertility or subfertility caused by meiotic segregation problems.



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Further Reading

Lupski JR and Stankiewicz P (eds) (2006) Genomic Disorders – The Genomic Basis of Disease. Totowa, NJ: Humana Press.

Muller S (2006) Primate chromosome evolution. In: Lupski JR and Stankiewicz P (eds) Genomic Disorders – The Genomic Basis of Disease, pp. 133–152. Totowa, NJ: Humana Press.

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Froenicke, Lutz, and Lyons, Leslie A(Jul 2008) Hotspots of Mammalian Chromosome Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020750]